On October 30-31, Tashkent will host the International Forum on the Diagnosis of Rare Diseases for the first time, gathering over 7,500 participants from 17 countries. This event marks a significant step towards addressing the challenge of rare diseases in Uzbekistan, which is attracting increasing attention each year. Rare diseases present a complex challenge, requiring not only medical expertise but also an interdisciplinary approach that includes patient support at both government and societal levels.
The forum will bring together leading specialists, including scientists, geneticists, pediatricians, neurologists, therapists, rheumatologists, ophthalmologists, and many other experts working on the diagnosis and treatment of rare diseases. Among them will be heads of medical institutions and healthcare organizers, who will discuss ways to improve the accessibility of diagnosis and treatment in Uzbekistan. The forum will also feature religious leaders from various faiths, patient communities and charitable organizations, as well as representatives of legislative and executive authorities.
One of the key topics of the forum will be the development of national strategies to combat rare diseases. Currently, Uzbekistan does not have implemented systems for mass neonatal screening, and many rare diseases are detected only at late stages when treatment becomes ineffective and extremely costly. The forum aims to discuss ways to implement expanded screening, as well as legislative measures to simplify the registration and importation of essential medications.
An important part of the discussion will focus on the social aspects of rare diseases, including the impact of consanguineous marriages on the spread of genetic disorders. In some regions of the country, a significant portion of marriages occur between cousins, which greatly increases the risk of children being born with hereditary diseases. The forum will serve as a platform to discuss not only medical but also ethical and social issues, as well as to develop measures for informing the public about risks and prevention.
The International Forum in Tashkent promises to be a starting point for the implementation of joint projects and initiatives. It is crucial that this process involves not only medical professionals but also representatives from government structures, civil society, and charitable organizations. Only coordinated efforts at all levels—from legislative development to the establishment of a social support network—will improve the lives of patients with rare diseases and their families. The outcomes of the forum will lay the groundwork for future programs aimed at enhancing the effectiveness of diagnosis and accessibility of treatment in Uzbekistan and other countries in the region.